Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A1
Variant:p.E123D

SLC19A1

506 papers

RefSeq Summary

The membrane protein encoded by this gene is a transporter of folate and is involved in the regulation of intracellular concentrations of folate. Three transcript variants encoding different isoforms ...

Pfam Domains

Folate_carrieraa 23–434UCSCReduced folate carrier

Gene Aliases

HGNC Name

solute carrier family 19 member 1

HGNC Alias Symbols

FOLT; IFC-1; hRFC; RFT-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_194255.4
p.E123D
c.369G>C
Surrounding Variants
1 paper
NM_194255.4
p.E123D
c.369G>T
3 papers
NM_194255.4
p.E123A
c.368A>C
1 paper
NM_194255.4
p.F125C
c.374T>G
2 papers
NM_194255.4
p.Y126C
c.377A>G
1 paper
NM_194255.4
p.S127N
c.380G>A
1 paper
NM_194255.4
p.V128V
c.384C>G
1 paper
NM_194255.4
p.H118Y
c.352C>T
1 paper
NM_194255.4
p.T129N
c.386C>A
1 paper
NM_194255.4
p.T129T
c.387C>T
1 paper
NM_194255.4
p.A117E
c.350C>A
1 paper
NM_194255.4
p.M130V
c.388A>G
1 paper
NM_194255.4
p.M130L
c.388A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."